Altered zygotic gene expression caused by sperm with Tdrd6 variants disrupts early embryonic development
2025

Sperm Variants Disrupt Early Embryonic Development

Sample size: 2 publication 10 minutes Evidence: high

Author Information

Author(s): Hu Zhijie, Zhang Yuqi, Cai Renfei, Chen Qiuju, Guo Haiyan, Li Danjun, Lin Weidong, He Hongxi, Wu Haibo, Liu Yali, Li Bin, Xi Qianwen, Gao Hongyuan, Zhang Jian, Lyu Qifeng, Kuang Yanping, Lu Xuefeng

Primary Institution: Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine

Hypothesis

Can Tdrd6 variants in sperm affect early embryonic development?

Conclusion

The study found that Tdrd6 variants in sperm lead to early embryonic arrest, but artificial oocyte activation can overcome this issue.

Supporting Evidence

  • The study identified novel TDRD6 variants in two infertile male individuals.
  • Sperm from affected individuals showed abnormal localization of phospholipase C zeta.
  • Artificial oocyte activation improved fertilization rates in both human and mouse models.
  • Low expression of the Mos gene was linked to early embryonic arrest.
  • Injection of Mos mRNA mitigated early embryonic arrest in mouse models.

Takeaway

Some sperm have special changes that can stop babies from growing in their mom's tummy, but a special treatment can help fix that.

Methodology

The study used Tdrd6 knock-in and knock-out mice to investigate the effects of Tdrd6 variants on embryonic development.

Limitations

The study's findings may not apply to all cases of early embryonic arrest due to male factors.

Participant Demographics

Two male patients with infertility linked to Tdrd6 variants.

Statistical Information

P-Value

p<0.05

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1002/mco2.70038

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